A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8548



Internal ID15846460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87771119..87774285hg38UCSC Ensembl
Outerchr9:90386034..90389200hg19UCSC Ensembl
Outerchr9:89575854..89579020hg18UCSC Ensembl
Outerchr9:87615588..87618754hg17UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg383167
hg193167
hg183167
hg173167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17636, nssv17854
SamplesNA10839, NA19007
Known GenesCTSL3P
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8548
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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